Diseases of the retina

Last updated: September 22, 2023

Summarytoggle arrow icon

The retina, which contains the first three neurons of the visual pathway, mediates the conversion of light stimuli into nerve impulses. Diseases of the retina may lead to visual impairment, visual field loss, and more complex disorders such as metamorphopsia (distorted vision) and clouding. Ophthalmoscopy is the preferred diagnostic method for identifying retinal diseases, but depending on the suspected disorder, other methods such as fluorescein angiography and optical coherence tomography (OCT) may be appropriate.

Color perception disorderstoggle arrow icon

Color blindness (dyschromatopsia) [1]

  • Description: altered color perception
  • Etiology: congenital or acquired (e.g., optic neuropathy due to ethambutol)
    • Congenital; color perception disorders (especially red-green color vision deficiency; ) are very common and occur mostly in men.
    • Affected individuals are generally unaware of their own color-perception disorders.

Dichromacy [2][3]

  • Description: Only two of the three types of cones in the retina are fully functional.
  • Types
    • Deuteranomaly: green color deficiency (very common: ∼ 5% of the male population)
    • Deuteranopia: green color blindness (∼ 1% of the male population)
    • Protanomaly: red color deficiency (∼ 1% of the male population)
    • Protanopia: red color blindness (∼ 1% of the male population)
    • Tritanomaly: blue-yellow color weakness (very rare)
    • Tritanopia: blue-yellow color blindness (very rare)
  • Clinical features: difficulties distinguishing colors from one another
  • Diagnostics
    • Ishihara color test: set of color-dotted plates used to diagnose deuteranopia and protanopia
    • Anomaloscope: instrument used to diagnose quantitative and qualitative defects in color perception


Degenerative diseases of the retinatoggle arrow icon

Central serous retinopathy (central serous chorioretinopathy)

Macular hole

Age-related macular degeneration

See age-related macular degeneration.

Retinal detachment

See retinal detachment.


Dystrophic retinal diseasestoggle arrow icon

Retinitis pigmentosa

Stargardt's disease

Best disease (vitelliform macular dystrophy)

  • Definition: juvenile macular dystrophy, autosomal dominant inheritance
  • Clinical features
    • Chronic progressive visual impairment; onset typically between 4–10 years
    • People often have vision of approx. 20/40
  • Diagnostics
  • Treatment: No causal therapy is known.
  • Prognosis: Some patients may not have visual deterioration beyond 20/40. However, the deterioration may progress after age 40.

Vascular diseases of the retinatoggle arrow icon

Retinal hemorrhage [5]

Overview of retinal hemorrhage
Classification Fundoscopic findings Examples
Retinal nerve fiber layer hemorrhage
  • Flame-shaped hemorrhages
  • Disc-shaped hemorrhages
  • Roth spots
Intraretinal hemorrhage
Subretinal hemorrhage
  • Dark red, amorphous hemorrhages
Preretinal hemorrhage
  • Boat- or d-shaped hemorrhages
Vitreous hemorrhage
  • Dark, red hemorrhagic patches usually seen in the macular region

Coats disease (exudative retinopathy)

Retinopathy of prematurity (ROP)

  • Definition: disease of the retina with abnormal vessel proliferations that affects preterm infants
  • Pathophysiology: elevated and fluctuating partial pressures of oxygen → pathological extraretinal neovascularization → hemorrhages, formation of fibrovascular membranes, and, in severe cases, retinal detachment
  • Etiology
  • Clinical features: only in severe leukocoria
  • Diagnostics: screening of all premature infants
    • Screening is indicated in the following:
    • Timing of examinations
      • In premature infants, screening starts at the 30 weeks' gestation
      • First examination 6 weeks postnatally
      • Follow-up depending upon findings or state of the ocular fundus
    • Examination of the ocular fundus to assess:
      • Vascularization of the peripheral retina
      • Demarcation line between vascularized and nonvascularized retina
      • Extraretinal vessel formations
      • Formation of membranes and distortion/detachment of the retina
      • Plus disease: increased tortuosity, exudation, hemorrhage
    • Follow-up screening until:
  • Treatment
    • In early stages of the disease: no treatment, but regular follow-up
    • In advanced stages: laser coagulation therapy may be indicated
    • In onset of retinal detachment: vitrectomy may be indicated
  • Complications
  • Prevention
    • Monitoring oxygen pressures
    • Regular fundoscopic exams to prevent delays in necessary treatments

Other retinal disorderstoggle arrow icon

Retinal emboli [9][10]

Retinal periphlebitis (Eales disease) [11]

Ocular toxoplasmosis

Tumors of the retinatoggle arrow icon

Leukocoriatoggle arrow icon

Referencestoggle arrow icon

  1. Small L, Suh DW. Juvenile Retinoschisis. Juvenile Retinoschisis. New York, NY: WebMD. Updated: May 2, 2017. Accessed: May 18, 2017.
  2. Tamhankar MA. Visual Loss. Elsevier ; 2018: p. 53-99
  3. O’Sullivan E, Graham E. RETINAL DISEASE. Elsevier ; 2009: p. 295-316
  4. Eales Disease. Updated: June 4, 2021. Accessed: September 29, 2021.
  5. Kanukollu VM, Ahmad SS. Retinal Hemorrhage. StatPearls. 2021.
  6. Gleason CA. Avery's Diseases of the Newborn. Elsevier Health Sciences ; 2017
  7. Binenbaum G, Mirza-George N, Christian CW, Forbes BJ. Odds of abuse associated with retinal hemorrhages in children suspected of child abuse. Journal of American Association for Pediatric Ophthalmology and Strabismus. 2009; 13 (3): p.268-272.doi: 10.1016/j.jaapos.2009.03.005 . | Open in Read by QxMD
  8. Kaur B, Taylor D. Retinal haemorrhages.. Arch Dis Child. 1990; 65 (12): p.1369-1372.doi: 10.1136/adc.65.12.1369 . | Open in Read by QxMD
  9. A Quick Introduction to Colorblindness. Updated: January 10, 2012. Accessed: May 18, 2017.
  10. Color Vision Deficiency. Updated: December 12, 2017. Accessed: December 16, 2017.
  11. Álvaro L, Moreira H, Lillo J, Franklin A. Color preference in red–green dichromats. Proceedings of the National Academy of Sciences. 2015; 112 (30): p.9316-9321.doi: 10.1073/pnas.1502104112 . | Open in Read by QxMD

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